Linked Data
ClinVar Variation Id:
2926935
ClinVar RCV Id:
RCV003781125
dbSNP Id:
rs780311461
ExAC:
11:68676050 C / G
gnomAD v2:
11-68676050-C-G
gnomAD v3:
11-68908582-C-G
gnomAD v4:
11-68908582-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908582C>G , CM000673.2:g.68908582C>G | GRCh38 |
| NC_000011.9:g.68676050C>G , CM000673.1:g.68676050C>G | GRCh37 |
| NC_000011.8:g.68432626C>G | NCBI36 |
| NG_007976.1:g.9732C>G , LRG_250:g.9732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.498C>G MANE Select | ENSP00000255078.4:p.Leu166= | |
| ENST00000539224.2:c.461C>G | ||
| ENST00000674583.1:c.461C>G | ||
| ENST00000674597.1:c.309C>G | ||
| ENST00000674955.1:c.498C>G | ENSP00000502463.1:p.Leu166= | |
| ENST00000675142.1:n.461C>G | ||
| ENST00000675469.1:c.374C>G | ||
| ENST00000675615.1:c.498C>G | ENSP00000502413.1:p.Leu166= | |
| ENST00000675674.1:n.461C>G | ||
| ENST00000675683.1:c.49C>G | ||
| ENST00000675873.1:c.461C>G | ||
| ENST00000676173.1:n.542C>G | ||
| ENST00000676228.1:c.449+245C>G | ENSP00000502375.1:n.449+245C>G | |
| ENST00000255078.7:c.498C>G | ENSP00000255078.3:p.Leu166= | |
| ENST00000539224.1:c.449+245C>G | ENSP00000440465.1:n.449+245C>G | |
| ENST00000544541.1:c.*238C>G | ENSP00000443343.1:n.*238C>G | |
| NM_002180.2:c.498C>G , LRG_250t1:c.498C>G | NP_002171.2:p.Leu166= | |
| XM_005273974.2:c.-514C>G | XP_005274031.1:n.-514C>G | |
| XM_005273976.1:c.498C>G | XP_005274033.1:p.Leu166= | |
| XR_247198.1:n.600C>G | ||
| XR_949903.1:n.600C>G | ||
| XM_005273976.2:c.498C>G | XP_005274033.1:p.Leu166= | |
| XM_017017669.2:c.-465+245C>G | XP_016873158.1:n.-465+245C>G | |
| XM_017017671.2:c.498C>G | XP_016873160.1:p.Leu166= | |
| XR_949903.3:n.596C>G | ||
| NM_002180.3:c.498C>G MANE Select | NP_002171.2:p.Leu166= |